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Home , Thrombocytopenia

ISSN: 2577 - 8005

Case Report Medical & Clinical Research Hemorrhagiparous Thrombocytic Dystrophy (Bernard-Soulier Syndrome): A Case Report of a Rare Syndrome

Yaser Khalid1, Neethi Dasu1*, Herman Suga1, Debashis Reja2, Kirti Dasu3, Amy Polansky1, Keith Brown1 and Richard Gordon4

1Division of Internal , Rowan University School of Medicine at Jefferson Health System, Stratford, New Jersey

* 2Division of , Rutgers Robert Wood Johnson Corresponding author , New Brunswick, New Jersey Dasu Neethi Rebekah, Division of Internal Medicine, Rowan University School of Medicine at Jefferson Health System, Stratford, New Jersey, USA 3Division of Biology, Syracuse University, Syracuse, New York Submitted: 27 Apr 2020; Accepted: 01 May 2020; Published: 04 May 2020 4Division of /, Comprehensive Cancer and Hematology Specialists, Voorhees, New Jersey, United States

Abstract Bleeding syndromes, such as Bernard-Soulier Syndrome (BSS), are extremely rare with an incidence of 1 in 1,000,000 persons. Very few cases (approximately a hundred) have been reported in the literature. However, it is very important to quickly recognize this condition as soon as possible before life-threatening complications occur. Here, we present a case of a 25-yr-old with chronic thrombocytopenia who was found to have BSS on peripheral smear prior to a routine dental procedure. Rare disorders, such as BSS, need to be on the differential diagnosis for because missing this condition could have led to catastrophic side effects, such as uncontrolled bleeding for our patient. She was transferred to a tertiary care center for her procedure to be managed for potential bleeding complications.

Introduction Case Report Bernard-Soulier syndrome (BSS) is a rare bleeding disorder A 25-year-old female presented to the hospital for an elective caused by a defect in glycoprotein-GpIb-IX-V complex, wisdom teeth extraction after developing dental pain over several which is the receptor for (VWF) [1]. This months. The patient has a past medical history of asthma, anxiety, leads to a dysfunction of primary hemostasis. When considering depression, gastroesophageal reflux disease (GERD), and chronic inherited bleeding disorders, BSS is not often considered as part of thrombocytopenia, averaging 80,000/uL throughout her life. She the differential diagnosis due to its extreme rarity. The estimated was presumably diagnosed with Sebastian syndrome when she was frequency of homozygous cases is as low as one per million based 12 years old after a period of extensive bruising and petechiae and on case reports. Inheritance of BSS is autosomal recessive. BSS is was subsequently found to have a platelet count of approximately a dual quantitative and qualitative bleeding disorder characterized 50,000/uL. Of note, her past surgical history revealed that she had by abnormally large , mild thrombocytopenia and platelet a tonsillectomy at age 5 with excessive postoperative bleeding. On dysfunction. Patients usually present early in life with bleeding review of system (ROS), the patient reported ongoing easy bruising symptoms, such as epistaxis, ecchymosis, and gingival bleeding; after mild trauma and excessive bleeding after finger cuts. She also rarely can it present with gastrointestinal bleeding and menorrhagia. reports heavy bleeding for several days of her monthly menstrual Platelet counts may range from as low as 30,000/μL to as high as cycle. 200,000/μL and fluctuate considerably in individual patients over the years [2]. Diagnosis of BSS requires high clinical suspicion Her family history revealed that her father and sister both had in suitable clinical settings, usually with a positive family history. chronic thrombocytopenia and were diagnosed with Bernard-Soulier Diagnosis can be confirmed with tests for platelet aggregation and Syndrome after genetic testing. Due to the unlikelihood of two flow cytometry [2]. We present a case of a 25-year-old female with genetic bleeding disorders being present in first degree relatives, the chronic thrombocytopenia who was found to have BSS on peripheral patient was then also diagnosed with Bernard-Soulier Syndrome. blood smear prior to a routine dental procedure that could have had Her home medications included omeprazole, sertraline, montelukast, unfortunate complications without proper preparation. and albuterol.

Med Clin Res, 2020 www.medclinres.org Volume 5 | Issue 4 | 43 On a physical exam, there were some scattered ecchymosis over her Soulier Syndrome from other inherited platelet disorders including arms and legs. Laboratory data showed her hemoglobin is 11.7 g/dL, von-Willebrand Disease. The defective response with a prolonged white count 5900 cells per cubic millimeter of blood, and and decreased or absent GP1b levels of flow cytometry platelets 81,000/uL with a that was increased leads to the diagnosis of BSS. In our case, the patient’s sister was at 12.8 fL. Upon further investigation of her peripheral blood smear, recently diagnosed with BSS via genetic testing. She is currently she was found to have very large platelets with a decreased platelet pending genetic testing. However, given clinical findings, histologic count consistent with BSS. findings and family history, the patient was diagnosed with BSS.

Due to concern for possible complications of her chronic Treatment starts with prevention of bleeding, including avoiding thrombocytopenia, such as increased risk of bleeding, the patient trauma and avoiding antiplatelet medications. Procedures, such was electively admitted to the hospital for routine wisdom tooth as dental procedures, should be performed in a center where the extraction. After admission and preoperative evaluation by internal patient can be monitored for prolonged bleeding so that the patient medicine and hematology, it was decided with her hematologist would be able to receive blood and platelet products if necessary. that she would be transferred to a tertiary care hospital to have her Bleeding time can be shortened with Desmopressin and rFVIIa dental procedure with oral maxillofacial where blood product in some patients [4]. Furthermore, a common complication with support could be provided. frequent transfusions is the development of iso in which patients may require HLA-matched platelets. The patient was transferred to the tertiary care facility and taken to the operating room the following day. She was pretreated with Currently there is limited information regarding preoperative and tranexamic acid 1,300 mg and 1 unit of platelets prior to the dental postoperative care of patients with BSS [5]. There is no consensus procedure. It was recommended that she continue tranexamic acid on the treatment guidelines for patients undergoing surgery. The at 1,300 mg every 8 hours for 5 days after the procedure. She was current approach involves the use of allogeneic platelets and anti- seen in follow-up by oral maxillofacial surgery on postoperative fibrinolytics such as recombinant factor VIIa and 1-deamino-8- day 3 and was found to have an unremarkable postoperative course. d-arginine vasopressin/desmopressin and tranexamic acid (TXA) Since the patient did not have medical insurance at the time of initial [5]. In this case, TXA and platelets were given to the patient. Our hematology consultation, she was diagnosed with BSS based on case highlights the need for broad differential diagnosis and a a family history of confirmed diagnoses, findings noted on blood strong clinical suspicion to diagnose BSS. Initially our patient was smear, and presenting clinical symptoms. Since then she has obtained misdiagnosed with Sebastian syndrome, which would have altered medical insurance and is currently undergoing official genetic testing her management with potentially catastrophic complications, such for the rare bleeding condition. as severe bleeding. Going forward, there needs to be a consensus on treatment and an emphasis on patient education. Discussion Bernard-Soulier Syndrome (BSS), also known as Hemorrhagiparous Thrombocytic Dystrophy, is a rare autosomal recessive disease affecting less than 1 in 1,000,000 people [3]. The disease is characterized by deficiency in the platelet membrane GPIb, GPIX and GPV which leads to prolonged bleeding and thrombocytopenia. Within the GPIb complex, it is composed of GPIba and GPIb subunits in which GPIb binds to GPIX and GPV. The amino terminal type a domain of GPIa then binds to vWF which mediates platelet adhesion and forms the first step in primary hemostasis [4]. This inhibits the complex to mediate adhesion at the blood vessel wall at sites of injury by binding to vWF as well as inhibiting the ability of thrombin at low concentrations to activate platelets [3]. Figure 1: Peripheral blood smear with very large platelets and The disease is often suspected early in life and is characterized decrease in number of platelets by symptoms, including , epistaxis, gingival bleeding and menorrhagia [4]. Our patient presented with this constellation of symptoms, with easy bruising, heavy menstrual bleeding with menses lasting an average of 7 day, and excessive bleeding after finger cuts. Prolonged and severe bleeding after surgery can be seen. To avoid this complication, our patient was going to have her wisdom teeth extraction at a tertiary care center. The first patient was described by Bernard and Soulier who suffered from bleeding problems, including cerebro-spinal hemorrhage, orbital and periorbital and died at 28 after an after a bar fight [3].

For the diagnosis of BSS, the blood smear will be characterized by the hallmark finding of “giant” platelets, with a diameter of up to 10 ug. A confirmatory test used is the defective response of platelets to Figure 2: Peripheral blood smear with very large platelets and . This is a distinct characteristic which differentiates Bernard decrease in number of platelets

Med Clin Res, 2020 www.medclinres.org Volume 5 | Issue 4 | 44 References Bernard-Soulier Syndrome. Blood Journal 91: 4397-4418. 1. Tripathi P, Karthika KV, HP Pati, Seema Tyagi (2018) Bernard 4. Wintrobe M, Greer J (2009) Wintrobe's clinical hematology. 12th Soulier Syndrome; a Rare Bleeding Disorder. International ed. Philadelphia: Wolters Kluwer Health/Lippincott Williams Journal of Medical and Dental Sciences 7: 1642. & Wilkins 2009: 1265. 2. Kanda K, Kunishima S, Sato A, Abe D, Nishijima S, et al. 5. Boppana S, Hall B, Beaujon A, Tumin D, Tobias J (2018) (2017) A Brazilian case of Bernard–Soulier syndrome with two Anesthetic Care of a Patient With Bernard-Soulier Syndrome for distinct founder mutations. Human Genome Variation 4: 17020. Posterior Spinal Fusion. Journal of Medical Cases 9: 341-344. 3. López J, Andrews R, Afshar-Kharghan V, Berndt M (1998)

Copyright: ©2020 Dasu Neethi Rebekah, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

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